Annotation Detail
Information
- Associated Genes
- FGFR3
- Associated Variants
-
FGFR3 MUTATION
FGFR3 MUTATION - Associated Disease
- Overgrowth syndrome
- Source Database
- DisGeNET
- Description
- This is the first report of a homozygous loss-of-function mutation in FGFR3 in human that results in a skeletal overgrowth syndrome.
- Pubmed
- 24864036
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs